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Article

A tetranucleotide deletion in the ANK1 gene causes hereditary spherocytosis; a case of misdiagnosis.

Gene - 5 Feb 2020

Zhu Fei, Liang Min, Xu Linlin, Peng Zhiyong, Cai Decheng, Wei Xiaofeng, Lin Li, Shang Xuan

Abstract excerpt

Hereditary spherocytosis is a congenital red blood cell disorder. Typical clinical manifestations include anemia, jaundice and splenomegaly, which overlap with the thalassemia phenotype. Therefore, in high prevalence thalassemia regions, hereditary spherocytosis cases are often misdiagnosed. Here, a case once diagnosed as thalassemia, based on preliminary clinical examinations, underwent genetic testing in our...

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PMID: 31669644
DOI: 10.1016/j.gene.2019.144226

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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